Canonical Allele Identifier: CA304868209

Gene: INSR

Linked Data

• dbSNP Id: rs41362249
• gnomAD v4: 19-7119577-A-G
• MyVariant Identifiers: chr19:g.7119588A>G (hg19) ; chr19:g.7119577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7119577A>G , CM000681.2:g.7119577A>G	GRCh38
NC_000019.9:g.7119588A>G , CM000681.1:g.7119588A>G	GRCh37
NC_000019.8:g.7070588A>G	NCBI36
NG_008852.2:g.179424T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3666T>C MANE Select	ENSP00000303830.4:p.Phe1222=
ENST00000302850.9:c.3666T>C	ENSP00000303830.4:p.Phe1222=
ENST00000341500.9:c.3630T>C	ENSP00000342838.4:p.Phe1210=
NM_000208.2:c.3666T>C	NP_000199.2:p.Phe1222=
NM_000208.3:c.3666T>C	NP_000199.2:p.Phe1222=
NM_001079817.1:c.3630T>C	NP_001073285.1:p.Phe1210=
NM_001079817.2:c.3630T>C	NP_001073285.1:p.Phe1210=
XM_011527988.1:c.3741T>C	XP_011526290.1:p.Phe1247=
XM_011527989.1:c.3705T>C	XP_011526291.1:p.Phe1235=
XM_011527988.2:c.3663T>C	XP_011526290.2:p.Phe1221=
XM_011527989.3:c.3627T>C	XP_011526291.2:p.Phe1209=
NM_000208.4:c.3666T>C MANE Select	NP_000199.2:p.Phe1222=
NM_001079817.3:c.3630T>C	NP_001073285.1:p.Phe1210=